Canonical Allele Identifier: CA1139665156

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 932823
• ClinVar RCV Id: RCV001200775
• dbSNP Id: rs2071381723

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224470A>C , CM000679.2:g.7224470A>C	GRCh38
NC_000017.10:g.7127789A>C , CM000679.1:g.7127789A>C	GRCh37
NC_000017.9:g.7068513A>C	NCBI36
NG_007975.1:g.9637A>C
NG_008391.2:g.581T>G
NG_033038.1:g.15075T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1606-10A>C MANE Select	ENSP00000349297.5:n.1606-10A>C
ENST00000322910.9:c.*1561-10A>C	ENSP00000325395.5:n.*1561-10A>C
ENST00000350303.9:c.1540-10A>C	ENSP00000344152.5:n.1540-10A>C
ENST00000356839.9:c.1606-10A>C	ENSP00000349297.5:n.1606-10A>C
ENST00000542255.6:c.464-10A>C
ENST00000543245.6:c.1675-10A>C	ENSP00000438689.2:n.1675-10A>C
ENST00000578319.5:n.177A>C
ENST00000578711.1:n.966A>C
ENST00000578809.5:n.178-10A>C
ENST00000579391.1:n.214-14A>C
ENST00000579425.5:n.722-10A>C
ENST00000579546.1:c.345-14A>C
ENST00000579894.5:n.393-10A>C
ENST00000582450.1:n.114-10A>C
ENST00000583074.5:n.227-10A>C
ENST00000583850.5:n.381-14A>C
ENST00000583858.5:c.537-10A>C
ENST00000585203.6:n.797-10A>C
NM_000018.3:c.1606-10A>C	NP_000009.1:n.1606-10A>C
NM_001033859.2:c.1540-10A>C	NP_001029031.1:n.1540-10A>C
NM_001270447.1:c.1675-10A>C	NP_001257376.1:n.1675-10A>C
NM_001270448.1:c.1378-10A>C	NP_001257377.1:n.1378-10A>C
XM_006721516.2:c.1606-10A>C	XP_006721579.2:n.1606-10A>C
XM_011523829.1:c.1508-14A>C	XP_011522131.1:n.1508-14A>C
XM_011523830.1:c.1508-14A>C	XP_011522132.1:n.1508-14A>C
XR_934021.1:n.1713-14A>C
XR_934022.1:n.1615-10A>C
XR_934023.1:n.1615-10A>C
XM_006721516.3:c.1606-10A>C	XP_006721579.2:n.1606-10A>C
XM_011523829.2:c.1508-14A>C	XP_011522131.1:n.1508-14A>C
XM_011523830.2:c.1508-14A>C	XP_011522132.1:n.1508-14A>C
XM_024450741.1:c.1584A>C	XP_024306509.1:p.Pro528=
XR_934021.2:n.1665-14A>C
XR_934022.2:n.1567-10A>C
XR_934023.2:n.1567-10A>C
NM_000018.4:c.1606-10A>C MANE Select	NP_000009.1:n.1606-10A>C
NM_001033859.3:c.1540-10A>C	NP_001029031.1:n.1540-10A>C
NM_001270447.2:c.1675-10A>C	NP_001257376.1:n.1675-10A>C
NM_001270448.2:c.1378-10A>C	NP_001257377.1:n.1378-10A>C